Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India.
Neurosci Lett
; 345(2): 93-6, 2003 Jul 17.
Article
en En
| MEDLINE
| ID: mdl-12821179
ABSTRACT
To identify the genetic modifier(s) that might alter the age at onset in Huntington's disease (HD) we have analyzed variations in GluR6 kainate receptor (GluR6), CA150 gene, Delta2642 and polymorphic CCG repeat variation in huntingtin (htt) gene in 77 HD patients and normal individuals. In addition, variation in the RAI1 gene was analyzed in 30 spinocerebellar ataxia (SCA2) patients and normal individuals to show the possible influence on the age at onset. Multiple regression analysis indicated that variation in GluR6 and CCG repeat genotype might explain 6.2% and 3.1%, respectively, of the variability in the age at onset in HD. Similar analysis with SCA2 patients indicated that RAI1 might explain about 13% of the variability in the age at onset. Specific alleles in GluR6 and CA150 locus were only observed in HD patients.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Huntington
/
Edad de Inicio
/
Ataxias Espinocerebelosas
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
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Male
/
Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
Neurosci Lett
Año:
2003
Tipo del documento:
Article
País de afiliación:
India